Medical mystery: Breathing problems developed during pregnancy

In 2008, Bianca Morgan was pregnant with her second child when she developed breathing problems. The Trenton woman felt winded over seemingly simple activities. She attributed it to the pregnancy and likely needing to lose weight.

But after her daughter was born, her shortness of breath gradually worsened. She made an appointment with her primary care doctor who first diagnosed her with seasonal allergies. Months later, her breathing problems remained.

Her doctor suggested she might have asthma, a chronic disease that causes inflammation in the airways. He prescribed two maintenance inhalers to help prevent inflammation and control her symptoms. (These medicines are different from rescue inhalers used to relieve an attack.) They offered some relief, but she still didn’t feel back to normal.

Over the years, the now-41-year-old nonsmoker normalized her breathing problems even as they worsened. She recalled a trip to Disney with her kids where she had to take multiple breaks just walking to the park entrance.

But one morning in 2017, Bianca’s breathing felt different. She couldn’t get air in or out. She noticed her lips turned a bluish-gray color, and her feet and ankles were swollen. She dropped her kids off at school and drove herself to the nearest emergency room.

Doctors found her oxygen saturation was dangerously low. They put her on oxygen and admitted her to the hospital.

When her breathing and swelling were under control, Bianca was sent home with oxygen.

Just days later at home, Bianca suddenly lost her breath, feeling as though her throat closed up. She returned to the ER, where doctors told her she had a collapsed lung. This occurs when air gets inside the chest cavity and creates pressure against the lung, causing it to collapse.

After a couple days in the hospital with no progress to reinflate her lung, she requested a transfer to the ICU at Temple University Hospital.

At Temple, Bianca had video-assisted thoracoscopic surgery (VATS), a minimally-invasive procedure in which a thoracic surgeon used a tiny camera to guide removal of the lung tissue that allowed air to escape into the chest. The surgeon also biopsied a piece of her lung.

The biopsy analysis showed signs of sarcoidosis, a rare inflammatory disease that causes the immune system to overreact.

People with sarcoidosis have clusters of inflamed tissue called “granulomas” in different parts of the body, though they most commonly affect the lungs. As granulomas form and grow, scar tissue can form in the affected organs, causing various symptoms.

While the cause of sarcoidosis is unknown, research has shown that it occurs more often among Black people. Women are also at higher risk for the disease.

Because symptoms of sarcoidosis can be vague and mimic other diseases, patients are often misdiagnosed for months or even years. Often, by the time patients are correctly diagnosed, they have more advanced disease.

The disease’s severity varies. Some patients have mild disease, and the granulomas may stop growing or shrink without treatment. Bianca was diagnosed with advanced pulmonary sarcoidosis, an advanced form that slowly worsens over years and can cause permanent scarring of the lungs known as fibrosis. This can reduce the amount of air the lungs can hold and cause abnormal stiffness, resulting in breathing problems.

Advanced fibrosis can also lead to other complications like pulmonary hypertension and infections. Patients with advanced disease have higher risk of death and disability than patients who have more mild disease.

Despite advances in research, there is no cure. Limited treatment options focus on preventing further organ damage, reducing symptoms, and improving quality of life. Patients with advanced pulmonary sarcoidosis may need a lung transplant.

Bianca did not meet eligibility requirements for a transplant and was referred to me to help manage the disease while she waited to be reevaluated for transplant.

Advanced sarcoidosis can affect multiple organs, each in a different way, so it’s best to seek treatment from a team of specialists who can work together to devise a comprehensive treatment plan.

While I worked on a treatment plan, Bianca’s disease progressed rapidly to the point where she had to move her bedroom to the first floor of her home because she could no longer climb stairs. Her kidney function also decreased.

Once I identified the cause of her symptoms — a combination of inflammation, fibrosis, and pulmonary hypertension — we began a holistic treatment plan. To address her fibrosis and help her breathe better, I recommended she continue supplemental daily oxygen and started her in a pulmonary rehab program.

I also prescribed medication to treat pulmonary hypertension, a condition in which scar tissue narrows or blocks arteries in the lungs, causing high blood pressure. Inflammation-reducing medications helped to improve symptoms and organ function.

Patients with advanced disease need close follow-up (every two to three months) to monitor symptoms and adjust treatment as needed.

Bianca has seen great improvement in her quality of life, now comfortably climbing stairs and resuming other daily activities that previously put her out of breath. Transplant is still an option as her lung damage cannot be reversed, but she’s enjoying much more independence now that her disease is being properly managed.

Rohit Gupta is director of the Sarcoidosis Center of Excellence at Temple University Hospital and an associate professor of thoracic medicine and surgery at the Lewis Katz School of Medicine at Temple University.